argininosuccinate synthase 1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:protein
gptkbp:alternativeName	gptkb:argininosuccinate_synthetase gptkb:ASS
gptkbp:associatedWith	gptkb:citrullinemia_type_I
gptkbp:cofactor	gptkb:ATP
gptkbp:encodedBy	ASS1 gene
gptkbp:Entrez_Gene_ID	GC09M133774
gptkbp:enzymeCommissionNumber	EC 6.3.4.5
gptkbp:expressedIn	gptkb:kidney liver other tissues
gptkbp:function	catalyzes the synthesis of argininosuccinate from citrulline and aspartate
gptkbp:gene	gptkb:ASS1
gptkbp:HGNC_ID	gptkb:HGNC:746
gptkbp:involves	gptkb:urea_cycle
gptkbp:locatedOnChromosome	chromosome 9q34.1
gptkbp:location	cytosol
gptkbp:molecularWeight	approximately 46 kDa
gptkbp:mutationAssociatedWith	argininosuccinic aciduria
gptkbp:OMIM	603470
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:orthologInMouse	Ass1
gptkbp:PDB	1A9S
gptkbp:product	argininosuccinate
gptkbp:RefSeq	NM_000050
gptkbp:structure	homotetramer
gptkbp:substrate	gptkb:aspartate citrulline
gptkbp:UniProtID	P00966
gptkbp:bfsParent	gptkb:ASS1
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	argininosuccinate synthase 1